Incidental Mutation 'IGL01911:Pomgnt2'
ID |
179800 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pomgnt2
|
Ensembl Gene |
ENSMUSG00000066235 |
Gene Name |
protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2 |
Synonyms |
Gtdc2, C85492 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01911
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
121810675-121825116 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121811854 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 309
(E309G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149753
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043011]
[ENSMUST00000084743]
[ENSMUST00000213773]
[ENSMUST00000214511]
[ENSMUST00000214533]
[ENSMUST00000214536]
[ENSMUST00000216669]
[ENSMUST00000217610]
[ENSMUST00000215084]
[ENSMUST00000215990]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043011
|
SMART Domains |
Protein: ENSMUSP00000040221 Gene: ENSMUSG00000038233
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
low complexity region
|
183 |
194 |
N/A |
INTRINSIC |
Pfam:FAM198
|
220 |
544 |
1.3e-150 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000084743
AA Change: E309G
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000095868 Gene: ENSMUSG00000066235 AA Change: E309G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
low complexity region
|
29 |
38 |
N/A |
INTRINSIC |
Pfam:DUF563
|
162 |
395 |
1.7e-25 |
PFAM |
low complexity region
|
462 |
475 |
N/A |
INTRINSIC |
SCOP:d1f6fb2
|
482 |
580 |
6e-9 |
SMART |
Blast:FN3
|
486 |
570 |
2e-49 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213773
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214511
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214533
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214536
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216669
AA Change: E309G
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217610
AA Change: E309G
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215008
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215084
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215990
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012] PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased birth body size and complete neonatal lethality associated with abnormal basal lamina formation and a neuronal migration defect due to a lack of laminin-binding glycans on alpha-dystroglycan. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox3 |
T |
C |
1: 58,191,719 (GRCm39) |
F424L |
probably benign |
Het |
Arhgap11a |
T |
C |
2: 113,671,077 (GRCm39) |
T301A |
probably damaging |
Het |
Atp9a |
C |
A |
2: 168,495,481 (GRCm39) |
R575L |
probably damaging |
Het |
Brca2 |
G |
A |
5: 150,491,078 (GRCm39) |
D3088N |
probably damaging |
Het |
Brd3 |
G |
A |
2: 27,349,812 (GRCm39) |
T247I |
probably damaging |
Het |
Btbd8 |
A |
G |
5: 107,656,446 (GRCm39) |
H903R |
probably damaging |
Het |
Cacna1i |
A |
G |
15: 80,275,933 (GRCm39) |
N1908S |
probably benign |
Het |
Ccdc40 |
A |
T |
11: 119,122,797 (GRCm39) |
|
probably null |
Het |
Cdyl |
T |
C |
13: 36,047,226 (GRCm39) |
V389A |
probably damaging |
Het |
Col28a1 |
A |
G |
6: 8,014,963 (GRCm39) |
F814S |
probably damaging |
Het |
Cstf3 |
T |
C |
2: 104,476,976 (GRCm39) |
F149S |
probably damaging |
Het |
Dglucy |
T |
C |
12: 100,804,784 (GRCm39) |
Y122H |
probably damaging |
Het |
Dram1 |
T |
C |
10: 88,161,203 (GRCm39) |
D222G |
probably damaging |
Het |
Ets2 |
G |
A |
16: 95,512,802 (GRCm39) |
R96H |
probably damaging |
Het |
Gm11563 |
T |
A |
11: 99,549,527 (GRCm39) |
R76* |
probably null |
Het |
Gm17093 |
A |
C |
14: 44,758,277 (GRCm39) |
|
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gpi1 |
A |
T |
7: 33,920,347 (GRCm39) |
V136D |
probably damaging |
Het |
Hfm1 |
G |
A |
5: 107,059,410 (GRCm39) |
T204M |
possibly damaging |
Het |
Itgae |
T |
C |
11: 73,006,963 (GRCm39) |
I403T |
probably damaging |
Het |
Krt75 |
A |
T |
15: 101,476,537 (GRCm39) |
D409E |
probably damaging |
Het |
Limk2 |
T |
G |
11: 3,305,340 (GRCm39) |
T76P |
probably benign |
Het |
Mtus2 |
A |
T |
5: 148,015,030 (GRCm39) |
M608L |
probably benign |
Het |
Obscn |
C |
A |
11: 58,899,421 (GRCm39) |
E979* |
probably null |
Het |
Or52ab7 |
T |
G |
7: 102,978,480 (GRCm39) |
F262L |
probably benign |
Het |
P2rx7 |
C |
T |
5: 122,796,831 (GRCm39) |
A166V |
probably damaging |
Het |
Sbno2 |
A |
T |
10: 79,905,458 (GRCm39) |
Y199* |
probably null |
Het |
Setd2 |
C |
A |
9: 110,446,499 (GRCm39) |
|
probably null |
Het |
Slc66a1 |
A |
G |
4: 139,028,384 (GRCm39) |
V186A |
probably benign |
Het |
Vmn2r84 |
T |
A |
10: 130,222,277 (GRCm39) |
I648F |
probably damaging |
Het |
Vrtn |
C |
T |
12: 84,696,980 (GRCm39) |
R577W |
probably benign |
Het |
Znhit6 |
A |
G |
3: 145,283,853 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Pomgnt2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00596:Pomgnt2
|
APN |
9 |
121,812,191 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01943:Pomgnt2
|
APN |
9 |
121,811,536 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02955:Pomgnt2
|
APN |
9 |
121,811,956 (GRCm39) |
missense |
probably damaging |
1.00 |
H8441:Pomgnt2
|
UTSW |
9 |
121,811,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R0080:Pomgnt2
|
UTSW |
9 |
121,811,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R0082:Pomgnt2
|
UTSW |
9 |
121,811,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R0602:Pomgnt2
|
UTSW |
9 |
121,811,339 (GRCm39) |
missense |
probably benign |
0.02 |
R0715:Pomgnt2
|
UTSW |
9 |
121,811,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R1491:Pomgnt2
|
UTSW |
9 |
121,811,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R1908:Pomgnt2
|
UTSW |
9 |
121,811,257 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1909:Pomgnt2
|
UTSW |
9 |
121,811,257 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2041:Pomgnt2
|
UTSW |
9 |
121,811,354 (GRCm39) |
missense |
probably benign |
0.00 |
R4428:Pomgnt2
|
UTSW |
9 |
121,811,320 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4578:Pomgnt2
|
UTSW |
9 |
121,812,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R4910:Pomgnt2
|
UTSW |
9 |
121,812,013 (GRCm39) |
missense |
probably benign |
0.19 |
R4937:Pomgnt2
|
UTSW |
9 |
121,811,620 (GRCm39) |
missense |
probably benign |
0.05 |
R5409:Pomgnt2
|
UTSW |
9 |
121,811,303 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6090:Pomgnt2
|
UTSW |
9 |
121,811,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R6596:Pomgnt2
|
UTSW |
9 |
121,811,320 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7152:Pomgnt2
|
UTSW |
9 |
121,812,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |